Name: controle1_s1
Variants: 46267
Novel Variants: 3912 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 46267 129 1/2 31786 0/1 14347 1/1 5 1
Total Gene-associated SNVs 46267 129 1/2 31786 0/1 14347 1/1 5 1

Type Total Variants
18
CODON_CHANGE_PLUS_CODON_DELETION92
CODON_CHANGE_PLUS_CODON_INSERTION49
CODON_DELETION48
CODON_DELETION+SPLICE_SITE_REGION1
CODON_INSERTION50
CODON_INSERTION+SPLICE_SITE_REGION1
FRAME_SHIFT154
FRAME_SHIFT+SPLICE_SITE_REGION40
FRAME_SHIFT+START_LOST5
FRAME_SHIFT+STOP_GAINED2
FRAME_SHIFT+STOP_LOST2
MOTIF[MA0003.1:Ap2alpha]9
MOTIF[MA0014.1:Pax5]1
MOTIF[MA0024.1:E2F1]4
MOTIF[MA0058.1:Max]1
MOTIF[MA0059.1:Cmyc]1
MOTIF[MA0062.1:Gabp]1
MOTIF[MA0062.2:Gabp]7
MOTIF[MA0065.2:PPARG]1
MOTIF[MA0074.1:RXRA]1
MOTIF[MA0079.1:SP1]1
MOTIF[MA0079.2:SP1]5
MOTIF[MA0080.2:PU1]1
MOTIF[MA0093.1:USF1]1
MOTIF[MA0095.1:Yy1]6
MOTIF[MA0114.1:HNF4A]1
MOTIF[MA0138.1:Nrsf]1
MOTIF[MA0139.1:CTCF]27
MOTIF[MA0147.1:Cmyc]3
MOTIF[MA0148.1:FOXA1]1
MOTIF[MA0162.1:Egr1]11
NON_SYNONYMOUS_CODING14649
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION334
NON_SYNONYMOUS_START9
PROTEIN_INTERACTION_LOCUS48
SPLICE_SITE_REGION14
SPLICE_SITE_REGION+SYNONYMOUS_CODING283
START_GAINED75
START_LOST24
START_LOST+SPLICE_SITE_REGION1
STOP_GAINED184
STOP_GAINED+SPLICE_SITE_REGION4
STOP_LOST24
STOP_LOST+SPLICE_SITE_REGION4
SYNONYMOUS_CODING13379
SYNONYMOUS_STOP15
None0

Type Total Variants
683
MISSENSE15045
NONSENSE188
SILENT13677
None0

Type Total Variants
HIGH492
LOW13806
MODERATE15224
MODIFIER71
None0

Type Total Variants
LowGQ6
LowGQ;LowGQX557
LowGQ;LowGQX;LowMQ22
LowGQ;LowGQX;LowMQ;LowQD55
LowGQ;LowGQX;LowMQ;LowQD;SB225
LowGQ;LowGQX;LowMQ;SB28
LowGQ;LowGQX;LowQD4
LowGQ;LowGQX;LowQD;SB68
LowGQ;LowGQX;SB387
LowGQ;LowMQ1
LowGQ;LowMQ;LowQD;SB1
LowGQ;LowMQ;SB1
LowGQ;SB1
LowGQX45
LowGQX;LowMQ;LowQD43
LowGQX;LowMQ;LowQD;SB295
LowGQX;LowMQ;SB1
LowGQX;LowQD594
LowGQX;LowQD;SB2384
LowGQX;SB89
LowMQ121
LowMQ;LowQD245
LowMQ;LowQD;SB388
LowMQ;SB50
LowQD1547
LowQD;SB1278
PASS37077
SB754

Quality Value
Min3.01
Average1748.76613460996
Max45289.75

Read Depth Value
Min1
Average161.89690276006658
Max4996

Type Total Variants
None0
33
51
22
5|51

Chromossome Total Variants
14500
101958
113221
122203
13812
141503
151422
162135
172647
18666
193418
22958
201117
21656
221167
32469
41804
51691
62964
72702
81447
91902
M18
X831
Y56